BFSP1

beaded filament structural protein 1
OMIM: 603307, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green BFSP1 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 33, 611391
Red BFSP1 in Structural eye disease


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Cataract 33, 611391